14. α-Galactosidase A (GLA) Activity for Fabry Disease Screening by : Inexpensive, Fast Sample Preparation
Tue 4:36 PM - PosterSplash Track 2
Sabrina Forni
Baylor Research Institute
View Long Abstract
Fabry disease is an X-linked lysosomal storage disorder characterized by low GLA activity.
Goal: to simplify a screening method for GLA enzyme activity.
Method: Two 1/8” punches of a dried blood spot are extracted for one hour at 37ºC with sodium phosphate buffer; 20 μL are incubated overnight with substrate and IS. The reaction is quenched using glycine buffer at pH 10.8; product and IS are extracted using SLE+ supported liquid extraction plates.
Result: GLA in five confirmed male Fabry patients is <1.3 µmoles/L/H. Average GLA for 758 adults is 2.8 µmoles/L/H with 5th percentile 1.2 µmoles/L/H.